Canonical Allele Identifier: CA511685984
Gene: APP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.27264082C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25891770C>T , CM000683.2:g.25891770C>T GRCh38
NC_000021.8:g.27264082C>T , CM000683.1:g.27264082C>T GRCh37
NC_000021.7:g.26185953C>T NCBI36
NG_007376.1:g.284051G>A
NG_007376.2:g.284359G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000346798.8:c.2163G>A MANE Select ENSP00000284981.4:p.Val721=
ENST00000346798.7:c.2163G>A ENSP00000284981.4:p.Val721=
ENST00000348990.9:c.1938G>A ENSP00000345463.5:p.Val646=
ENST00000354192.7:c.1770G>A ENSP00000346129.3:p.Val590=
ENST00000357903.7:c.2106G>A ENSP00000350578.3:p.Val702=
ENST00000358918.7:c.2109G>A ENSP00000351796.3:p.Val703=
ENST00000359726.7:c.1833G>A ENSP00000352760.4:p.Val611=
ENST00000439274.6:c.1995G>A ENSP00000398879.2:p.Val665=
ENST00000440126.7:c.2091G>A ENSP00000387483.2:p.Val697=
ENST00000464867.1:n.510G>A
NM_000484.3:c.2163G>A NP_000475.1:p.Val721=
NM_001136016.3:c.2091G>A NP_001129488.1:p.Val697=
NM_001136129.2:c.1770G>A NP_001129601.1:p.Val590=
NM_001136130.2:c.1995G>A NP_001129602.1:p.Val665=
NM_001136131.2:c.1833G>A NP_001129603.1:p.Val611=
NM_001204301.1:c.2109G>A NP_001191230.1:p.Val703=
NM_001204302.1:c.2052G>A NP_001191231.1:p.Val684=
NM_001204303.1:c.1884G>A NP_001191232.1:p.Val628=
NM_201413.2:c.2106G>A NP_958816.1:p.Val702=
NM_201414.2:c.1938G>A NP_958817.1:p.Val646=
NM_000484.4:c.2163G>A MANE Select NP_000475.1:p.Val721=
NM_001136129.3:c.1770G>A NP_001129601.1:p.Val590=
NM_001136130.3:c.1995G>A NP_001129602.1:p.Val665=
NM_001204301.2:c.2109G>A NP_001191230.1:p.Val703=
NM_001204302.2:c.2052G>A NP_001191231.1:p.Val684=
NM_001204303.2:c.1884G>A NP_001191232.1:p.Val628=
NM_201413.3:c.2106G>A NP_958816.1:p.Val702=
NM_201414.3:c.1938G>A NP_958817.1:p.Val646=
NM_001136131.3:c.1833G>A NP_001129603.1:p.Val611=
NM_001385253.1:c.1995G>A NP_001372182.1:p.Val665=